ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2736C>A (p.His912Gln)

dbSNP: rs756653034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235962 SCV001408671 uncertain significance Intellectual disability, autosomal dominant 1 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 912 of the MBD5 protein (p.His912Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MBD5-related conditions. This variant is present in population databases (rs756653034, ExAC 0.02%).

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